Search

Your search keyword '"Reurink, J.A."' showing total 3 results
Start Over Author "Reurink, J.A." Topic radboudumc 7: neurodevelopmental disorders dcmn: donders center for medical neuroscience.
3 results on '"Reurink, J.A."'

1. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Author

Reurink, J.A. and Reurink, J.A.

Subjects
All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 12: Sensory disorders Otorhinolaryngology., Radboudumc 6: Metabolic Disorders Human Genetics., Radboudumc 6: Metabolic Disorders Paediatrics., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience.
Published
2023

2. Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.

Author

Reurink, J.A. and Reurink, J.A.

Subjects
All institutes and research themes of the Radboud University Medical Center., Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience., Radboudumc 19: Nanomedicine RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences., Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience.
Published
2022

Catalog

Books, media, physical & digital resources
See catalog results